Term Name: triosephosphate isomerase deficiency
Synonyms: Triose phosphate-isomerase deficiency
Definition: A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
Ontology: Human Disease [DOID:0050884]   ( DOID:0050884 )

Relationships
is a type of: glucose metabolism disease